Incidental Mutation 'R2435:Unc93b1'
ID |
249566 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Unc93b1
|
Ensembl Gene |
ENSMUSG00000036908 |
Gene Name |
unc-93 homolog B1, TLR signaling regulator |
Synonyms |
|
MMRRC Submission |
040396-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2435 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
3985222-3999340 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 3986373 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 136
(I136V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128751
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162708]
[ENSMUST00000165711]
|
AlphaFold |
no structure available at present |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162193
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162708
AA Change: I136V
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124272 Gene: ENSMUSG00000036908 AA Change: I136V
Domain | Start | End | E-Value | Type |
low complexity region
|
66 |
78 |
N/A |
INTRINSIC |
transmembrane domain
|
81 |
103 |
N/A |
INTRINSIC |
Pfam:UNC-93
|
135 |
214 |
1.6e-8 |
PFAM |
transmembrane domain
|
238 |
260 |
N/A |
INTRINSIC |
transmembrane domain
|
306 |
328 |
N/A |
INTRINSIC |
transmembrane domain
|
364 |
386 |
N/A |
INTRINSIC |
transmembrane domain
|
396 |
418 |
N/A |
INTRINSIC |
transmembrane domain
|
423 |
445 |
N/A |
INTRINSIC |
transmembrane domain
|
460 |
482 |
N/A |
INTRINSIC |
transmembrane domain
|
494 |
513 |
N/A |
INTRINSIC |
transmembrane domain
|
518 |
535 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165711
AA Change: I136V
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128751 Gene: ENSMUSG00000036908 AA Change: I136V
Domain | Start | End | E-Value | Type |
low complexity region
|
66 |
78 |
N/A |
INTRINSIC |
transmembrane domain
|
81 |
103 |
N/A |
INTRINSIC |
Pfam:UNC-93
|
135 |
214 |
5.1e-9 |
PFAM |
transmembrane domain
|
243 |
265 |
N/A |
INTRINSIC |
transmembrane domain
|
305 |
327 |
N/A |
INTRINSIC |
transmembrane domain
|
367 |
389 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014] PHENOTYPE: Mice with a transmembrane domain point mutation have no overt phenotype but fail to mount a normal cytokine response and exhibit increased susceptibility to mouse cytomegalovirus, Lysteria monocytogenes and Staphlococcus aureus. Antigen presentation by MHC class I and II is impaired. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
C |
T |
19: 31,898,294 (GRCm39) |
T226I |
probably benign |
Het |
Acvr1 |
T |
C |
2: 58,369,704 (GRCm39) |
N102D |
probably damaging |
Het |
Cd34 |
T |
A |
1: 194,621,334 (GRCm39) |
C21S |
probably damaging |
Het |
Cdh18 |
C |
T |
15: 23,367,094 (GRCm39) |
R267W |
probably damaging |
Het |
Ckap5 |
T |
A |
2: 91,411,490 (GRCm39) |
N966K |
probably benign |
Het |
Clec4e |
A |
G |
6: 123,265,855 (GRCm39) |
V44A |
probably damaging |
Het |
Cubn |
T |
A |
2: 13,323,083 (GRCm39) |
N2828I |
probably damaging |
Het |
Dnah10 |
G |
T |
5: 124,839,929 (GRCm39) |
|
probably null |
Het |
Fshr |
A |
T |
17: 89,508,024 (GRCm39) |
V6D |
unknown |
Het |
Gcc2 |
A |
G |
10: 58,130,602 (GRCm39) |
D1398G |
probably damaging |
Het |
Gpi1 |
G |
A |
7: 33,905,254 (GRCm39) |
A390V |
probably damaging |
Het |
Gypa |
G |
T |
8: 81,233,397 (GRCm39) |
|
probably null |
Het |
Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
Ifna13 |
T |
A |
4: 88,562,366 (GRCm39) |
Q86L |
probably damaging |
Het |
Itgae |
T |
A |
11: 73,012,763 (GRCm39) |
C698* |
probably null |
Het |
Ivns1abp |
T |
C |
1: 151,239,061 (GRCm39) |
V625A |
probably benign |
Het |
Kcnh2 |
A |
G |
5: 24,531,345 (GRCm39) |
|
probably null |
Het |
Kcnj6 |
G |
A |
16: 94,563,538 (GRCm39) |
T320M |
probably damaging |
Het |
Mblac2 |
T |
C |
13: 81,898,368 (GRCm39) |
I248T |
probably damaging |
Het |
Muc5ac |
A |
T |
7: 141,371,841 (GRCm39) |
Y2647F |
possibly damaging |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Or4k15 |
T |
C |
14: 50,364,211 (GRCm39) |
M59T |
probably damaging |
Het |
Or6c217 |
G |
T |
10: 129,738,173 (GRCm39) |
N135K |
possibly damaging |
Het |
Pard3b |
T |
A |
1: 62,626,897 (GRCm39) |
V1059E |
probably damaging |
Het |
Pkd1l3 |
A |
C |
8: 110,377,334 (GRCm39) |
I1585L |
probably benign |
Het |
Pramel31 |
A |
T |
4: 144,089,473 (GRCm39) |
I264F |
possibly damaging |
Het |
Prrc2b |
A |
T |
2: 32,109,741 (GRCm39) |
S1791C |
probably damaging |
Het |
Rbmxl2 |
C |
A |
7: 106,809,538 (GRCm39) |
S274R |
probably damaging |
Het |
Serpini2 |
T |
C |
3: 75,165,475 (GRCm39) |
E168G |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Sis |
A |
G |
3: 72,819,237 (GRCm39) |
S1440P |
probably benign |
Het |
Snrnp40 |
A |
G |
4: 130,278,344 (GRCm39) |
H283R |
probably damaging |
Het |
Tcaf2 |
G |
T |
6: 42,607,298 (GRCm39) |
Q219K |
possibly damaging |
Het |
Tenm3 |
C |
T |
8: 48,740,988 (GRCm39) |
R803H |
probably damaging |
Het |
Ugt2b5 |
T |
C |
5: 87,287,465 (GRCm39) |
D234G |
probably damaging |
Het |
Unc13d |
A |
G |
11: 115,959,514 (GRCm39) |
F653S |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,656,753 (GRCm39) |
S151P |
possibly damaging |
Het |
Vmn2r50 |
C |
A |
7: 9,787,026 (GRCm39) |
W27L |
probably benign |
Het |
Zan |
T |
C |
5: 137,436,836 (GRCm39) |
S2006G |
unknown |
Het |
|
Other mutations in Unc93b1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01088:Unc93b1
|
APN |
19 |
3,985,356 (GRCm39) |
splice site |
probably null |
|
IGL02631:Unc93b1
|
APN |
19 |
3,992,026 (GRCm39) |
splice site |
probably benign |
|
IGL02942:Unc93b1
|
APN |
19 |
3,998,686 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03149:Unc93b1
|
APN |
19 |
3,994,041 (GRCm39) |
missense |
probably benign |
|
3d
|
UTSW |
19 |
3,994,168 (GRCm39) |
missense |
possibly damaging |
0.96 |
novelty
|
UTSW |
19 |
3,993,632 (GRCm39) |
missense |
probably damaging |
1.00 |
speciality
|
UTSW |
19 |
3,991,910 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0680:Unc93b1
|
UTSW |
19 |
3,997,093 (GRCm39) |
missense |
probably benign |
|
R1237:Unc93b1
|
UTSW |
19 |
3,985,228 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1557:Unc93b1
|
UTSW |
19 |
3,992,403 (GRCm39) |
missense |
probably benign |
0.13 |
R1992:Unc93b1
|
UTSW |
19 |
3,994,062 (GRCm39) |
missense |
probably benign |
0.00 |
R4016:Unc93b1
|
UTSW |
19 |
3,993,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R4080:Unc93b1
|
UTSW |
19 |
3,991,959 (GRCm39) |
missense |
probably damaging |
0.99 |
R4479:Unc93b1
|
UTSW |
19 |
3,985,236 (GRCm39) |
missense |
probably benign |
0.16 |
R4829:Unc93b1
|
UTSW |
19 |
3,994,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R4947:Unc93b1
|
UTSW |
19 |
3,985,871 (GRCm39) |
missense |
probably benign |
0.05 |
R4964:Unc93b1
|
UTSW |
19 |
3,992,023 (GRCm39) |
splice site |
probably null |
|
R4966:Unc93b1
|
UTSW |
19 |
3,992,023 (GRCm39) |
splice site |
probably null |
|
R5056:Unc93b1
|
UTSW |
19 |
3,992,762 (GRCm39) |
missense |
possibly damaging |
0.45 |
R5166:Unc93b1
|
UTSW |
19 |
3,994,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R5441:Unc93b1
|
UTSW |
19 |
3,993,703 (GRCm39) |
missense |
probably benign |
0.01 |
R5892:Unc93b1
|
UTSW |
19 |
3,993,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R6382:Unc93b1
|
UTSW |
19 |
3,985,297 (GRCm39) |
missense |
probably benign |
0.19 |
R6556:Unc93b1
|
UTSW |
19 |
3,994,105 (GRCm39) |
missense |
probably benign |
|
R6962:Unc93b1
|
UTSW |
19 |
3,986,303 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7143:Unc93b1
|
UTSW |
19 |
3,985,204 (GRCm39) |
missense |
unknown |
|
R7748:Unc93b1
|
UTSW |
19 |
3,985,250 (GRCm39) |
missense |
unknown |
|
R7866:Unc93b1
|
UTSW |
19 |
3,985,243 (GRCm39) |
missense |
not run |
|
R8198:Unc93b1
|
UTSW |
19 |
3,991,910 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9212:Unc93b1
|
UTSW |
19 |
3,993,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R9503:Unc93b1
|
UTSW |
19 |
3,986,373 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGGGAGTCTTGTTCTTATCC -3'
(R):5'- AAACAAGCAAGGCCTCTCTG -3'
Sequencing Primer
(F):5'- ATCCTGGTCCTGATGAATACAG -3'
(R):5'- AGCAAGGCCTCTCTGCAGTTC -3'
|
Posted On |
2014-11-12 |